期刊
JOURNAL OF CHILDRENS ORTHOPAEDICS
卷 2, 期 1, 页码 1-9出版社
BRITISH EDITORIAL SOC BONE & JOINT SURGERY
DOI: 10.1007/s11832-008-0076-2
关键词
Limb development; Limb patterning; Genetic regulation; Hox genes; Retinoic acid
Over the last 15 years, great improvements in genetic engineering and genetic manipulation strategies have led to significant advances in the understanding of the genetics governing embryological limb development. This field of science continues to develop, and the complex genetic interactions and signalling pathways are still not fully understood. In this review we will discuss the roles of the principle genes involved in the three-dimensional patterning of the developing limb and will discuss how errors in these signalling cascades correlate to congenital limb deformity in humans. This review is aimed at orthopaedic surgeons wishing to understand the principles of congenital limb deformity related to genetic signalling errors. It is by no means a comprehensive study of the molecular genetics governing the complex interactions involved in each step of limb development. There are however many syndromes involving limb deformity for which the molecular causes are unknown.
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